Mitochondrial DNA control region analysis of three ethnic groups in the Republic of Macedonia
Renata Jankova-AjanovskaBettina ZimmermannGabriela HuberAlexander RöckMartin BodnerZlatko JakovskiBiljana JaneskaA. DumaWalther Parson
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A total of 444 individuals representing three ethnic groups (Albanians, Turks and Romanies) in the Republic of Macedonia were sequenced in the mitochondrial control region. The mtDNA haplogroup composition differed between the three groups. Our results showed relatively high frequencies of haplogroup H12 in Albanians (8.8%) and less in Turks (3.3%), while haplogroups M5a1 and H7a1a were dominant in Romanies (13.7% and 10.3%, respectively) but rare in the former two. This highlights the importance of regional sampling for forensic mtDNA databasing purposes. These population data will be available on EMPOP under accession numbers EMP00644 (Albanians), EMP00645 (Romanies) and EMP00646 (Turks).Keywords:
Haplogroup
mtDNA control region
Two major Ovis aries mitochondrial DNA (mtDNA) haplogroups have been described in independent studies. HinfI RFLP data of mitochondrial genomes from a large sample set (n = 239) indicated an ancient mutation which differentiates between the two mtDNA types. A completely determined sheep mtDNA sequence was used to assign this mutation to the COI gene and to develop a PCR based assay discriminating between the two phylogenetic branches. The haplogroup specificity of the mutation was further investigated in 26 randomly selected individuals. The animals were unequivocally assigned to their respective groups on the basis of the developed test and their complete control region sequences. The assay provides a rapid and economic means of discriminating between both major domestic sheep mtDNAs.
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Ovis
mtDNA control region
Sequence (biology)
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Heteroplasmy
Nuclear DNA
Non-Mendelian inheritance
Human mitochondrial genetics
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Hypervariable region
Heteroplasmy
mtDNA control region
Nucleotide diversity
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We have obtained mitochondrial DNA (mtDNA) sequences from Karl Wilhelm Naundorff’s hair, who pretended to be the son of King Louis XVI (1754-1793) and Queen Marie-Antoinette (1755-1793). Authenticity of the hair is established by optic and electronic microscopy. Sequences of hypervariable regions of the mitochondrial DNA (extracted from two different hairs) show five mutations : 16298C ; 72C, 152C, 195C and 263G ; the corresponding mtDNA haplogroup is the sub-haplogroup HVO. Consequently, Naundorff cannot be excluded to be considered as being Louis XVII on the basis of mtDNA sequence of his humerus (as affirmed in Jehaes et al., 1998). Comparisons of mtDNA sequences between mtDNA extracted from Naundorff’s hair reported here and those (Jehaes et al., 2001) of the living Anna of Roumania (of Habsburg descent) shows that both correspond to mtDNA haplogroups of the general HV cluster.
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Hypervariable region
Sequence (biology)
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Mitochondrial DNA hypervariable regions II of control region were sequenced from 139 random healthy unrelated individuals ethnic of Iraqi population in Basrah city. The aim of this study was to detect and classify the mtDNA haplotypes into mtDNA haplogroups will be better in applications of the forensic genetics and will determine the history of the Iraqi Population The variation in sequence within the D-loop control region was analyzed for the haplogroups composition which displayed a high haplogroups frequency. H, J, U, B, N and R (25%, 12%,12%, 7%, 5% and 5%, respectively, Moderate Haplogroups Frequency L, T and W was (3%) HV, I, X and M (1%), and low haplogroups frequency in pre-HV (0.7%). This study Reported absence of haplogroups V, P, Y, O, Z, Q, G, E and C.
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Hypervariable region
mtDNA control region
D-loop
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Ancient DNA
mtDNA control region
Coding region
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Hypervariable region
mtDNA control region
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Mitochondrial DNA (mtDNA) sequence variation was examined in Finns, Swedes and Tuscans by PCR amplification and restriction analysis. About 99% of the mtDNAs were subsumed within 10 mtDNA haplogroups (H, I, J, K, M, T, U, V, W, and X) suggesting that the identified haplogroups could encompass virtually all European mtDNAs. Because both hypervariable segments of the mtDNA control region were previously sequenced in the Tuscan samples, the mtDNA haplogroups and control region sequences could be compared. Using a combination of haplogroup-specific restriction site changes and control region nucleotide substitutions, the distribution of the haplogroups was surveyed through the published restriction site polymorphism and control region sequence data of Caucasoids. This supported the conclusion that most haplogroups observed in Europe are Caucasoid-specific, and that at least some of them occur at varying frequencies in different Caucasoid populations. The classification of almost all European mtDNA variation in a number of well defined haplogroups could provide additional insights about the origin and relationships of Caucasoid populations and the process of human colonization of Europe, and is valuable for the definition of the role played by mtDNA backgrounds in the expression of pathological mtDNA mutations
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Hypervariable region
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mtDNA control region
Human mitochondrial genetics
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Circulating cell-free mitochondrial DNA (ccf-mtDNA) acts as a damage-associated molecular pattern molecule and may be cargo within extracellular vesicles (EVs). ccf-mtDNA and select mitochondrial DNA (mtDNA) haplogroups are associated with cardiovascular disease. We hypothesized that ccf-mtDNA and plasma EV mtDNA would be associated with hypertension, sex, self-identified race, and mtDNA haplogroup ancestry. Participants were normotensive (n = 107) and hypertensive (n = 108) African American and White adults from the Healthy Aging in Neighborhoods of Diversity across the Life Span study. ccf-mtDNA levels were higher in African American participants compared with White participants in both plasma and EVs, but ccf-mtDNA levels were not related to hypertension. EV mtDNA levels were highest in African American participants with African mtDNA haplogroup. Circulating inflammatory protein levels were altered with mtDNA haplogroup, race, and EV mtDNA. Our findings highlight that race is a social construct and that ancestry is crucial when examining health and biomarker differences between groups.
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Mitochondrial DNA (mtDNA) haplogroups affect the clinical expression of Leber hereditary optic neuropathy, age-related macular degeneration, and other diseases. The objective of this study is to investigate whether an mtDNA background is associated with myopia.Blood DNA was obtained from 192 college students, including 96 individuals with moderate-to-high myopia and 96 controls without myopia. All the subjects were from a well-known isolated population living in the Chaoshan area of east Guangdong Province and speaking one of the four major dialects in southern China. The mtDNA haplogroups in the 192 subjects were determined by sequencing the mtDNA control region and partial coding regions as well as by analysis of restriction fragment length polymorphisms. Each mtDNA was classified according to the updated version of the Eastern Asian haplogroup system.Sixteen mtDNA haplogroups were recognized in the 192 subjects. The overall matrilineal structures of the samples with and without myopia were similar and had genetic imprints showing their ethno-origin. There was no statistical difference in frequencies of haplogroup distribution between subjects with and without myopia (chi(2) test, p=0.556).We failed to identify clues that suggest an involvement of mtDNA background in the predisposition to myopia.
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